Aliases for TUBA4A Gene
External Ids for TUBA4A Gene
Previous HGNC Symbols for TUBA4A Gene
Previous GeneCards Identifiers for TUBA4A Gene
Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
GeneCards Summary for TUBA4A Gene
TUBA4A (Tubulin Alpha 4a) is a Protein Coding gene. Diseases associated with TUBA4A include Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemoral Dementia and Autosomal Dominant Robinow Syndrome 3. Among its related pathways are Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding and Signaling in Gap Junctions. GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBA1B.
UniProtKB/Swiss-Prot for TUBA4A Gene
Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.
Microtubules are cylindrical tubes of 20-25 nm in diameter. They are composed of protofilaments which are in turn composed of alpha- and beta-tubulin polymers. Each microtubule is polarized; at one end alpha-subunits are exposed (-) and at the other, beta-subunits are exposed (+).